A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974901



Internal ID22749836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180722087..180722590hg38UCSC Ensembl
chr2:181586814..181587317hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396352
Samples
Known GenesSCHLAP1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974901
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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